Chambon F, Paillard C, Doré E, Merlin E, Isfan F, Stéphan J-L, Mareynat G, Deméocq F, Kanold J
Centre régional de cancérologie et thérapie cellulaire pédiatrique, hôpital Estaing, CHU de Clermont-Ferrand, BP 69, 1, place Lucie-Aubrac, 63001 Clermont-Ferrand, France.
Arch Pediatr. 2012 Nov;19(11):1212-6. doi: 10.1016/j.arcped.2012.08.012. Epub 2012 Oct 1.
Acute megakaryoblastic leukemia accounts for approximately 3-10% of acute myeloid leukemia in children. Its diagnosis may be difficult because of associated myelofibrosis. We report the case of a 7-month-old child who presented hepatomegaly with bicytopenia. She also developed bone and joint pain with recurrent aseptic arthritis. We suggested the diagnosis of megakaryoblastic leukemia early but multiple bone marrow investigations had been processed without positive results because of sampling problems and lack of abnormal cells in the morphological, phenotypic, and cytogenetic examinations. We had a variety of indirect evidence for our assumption: the x-ray showing periosteal new bone, lytic lesions and metaphyseal bands, bone marrow aspirate smears with micromegakaryocytes, and bone marrow biopsy suggesting myelofibrosis. This was very suggestive of leukemia but we could not prove it and we finally found megakaryoblasts on bone marrow aspirate smears after more than 2 months of investigation and initiated a course of corticosteroids.
急性巨核细胞白血病约占儿童急性髓系白血病的3%-10%。由于伴有骨髓纤维化，其诊断可能较为困难。我们报告了一例7个月大的儿童病例，该患儿出现肝肿大伴双系血细胞减少。她还出现了骨和关节疼痛以及复发性无菌性关节炎。我们早期就怀疑是巨核细胞白血病，但由于采样问题以及形态学、表型和细胞遗传学检查中缺乏异常细胞，多次进行骨髓检查均未得到阳性结果。我们有多种间接证据支持我们的推测：X线显示骨膜新生骨、溶骨性病变和干骺端带，骨髓穿刺涂片可见微巨核细胞，骨髓活检提示骨髓纤维化。这强烈提示为白血病，但我们无法证实，经过两个多月的检查，最终在骨髓穿刺涂片中发现了巨核母细胞，并开始了皮质类固醇治疗。
